ocular albinism

But there is another form, known as 'ocular albinism', in which only the eyes are affected.

Ocular albinism results in pale blue eyes, and may require genetic testing to diagnose.

There are multiple forms of ocular albinism, which are clinically similar.

Ocular albinism affects not only eye pigmentation, but visual acuity, as well.

Ocular albinism is inherited as an X-linked recessive genetic condition.

Another type of albism, called ocular albinism type 1 (OA1), affects only the eyes.

He made important contributions in the research of ocular albinism, retinitis pigmentosa and hereditary night blindness.

To date there is no treatment for ocular albinism, probably because such little is known about the receptor function and its role in pathophysiology.

An exception to this is ocular albinism, which it is passed on to offspring through X-linked inheritance.

Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains.

TYRP2, for example, is important in the development of correct pigmentation; general and ocular albinism is associated with nystagmus.

Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.

The Nettleship-Falls syndrome, the most common type of ocular albinism, is named after him and English ophthalmologist Edward Nettleship.

Though surgery for strabismus is sometimes helpful, there does not seem to be a sure remedy for it until the etiology of ocular albinism is well established.

There are two other kinds of human albinism: ocular albinism, affecting only the eyes, and localized albinism, in which small areas of the body lack pigment.

When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism.

Thus, ocular albinism occurs more frequently in males as they have a single X and Y chromosome, unlike females, whose genetics are characterized by two X chromosomes.

The term is therefore not used in medicine for ocular albinism, in which the eye is otherwise healthy despite an obviously red pupil and a translucent pinkish iris due to reflected light from the fundus.

Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or mutations of either the Tyr gene or P transporter.

This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype.

Since the locus encoding human SHROOM2 lies within the critical region for two distinct forms of ocular albinism, it is possible that SHROOM2 mutations may contribute to human visual system disorders.

OA1 Ocular albinism type 1 XLOA Nettleship-Falls ocular albinism None Ocular albinism is a genetic disorder characterized by vision abnormalities in affected males.